Canonical Allele Identifier: CA4304261

Gene: POR

Linked Data

• ClinVar Variation Id: 256841
• ClinVar RCV Id: RCV001292551 ; RCV001706299
• dbSNP Id: rs1057870
• ExAC: 7:75615287 G / A
• gnomAD v2: 7-75615287-G-A
• gnomAD v3: 7-75985969-G-A
• gnomAD v4: 7-75985969-G-A
• MyVariant Identifiers: chr7:g.75615287G>A (hg19) ; chr7:g.75985969G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985969G>A , CM000669.2:g.75985969G>A	GRCh38
NC_000007.13:g.75615287G>A , CM000669.1:g.75615287G>A	GRCh37
NC_000007.12:g.75453223G>A	NCBI36
NG_008930.1:g.75868G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000475509.2:c.1491G>A	ENSP00000516446.1:p.Ser497=
ENST00000706544.1:c.1617G>A	ENSP00000516442.1:p.Ser539=
ENST00000706545.1:c.1716G>A	ENSP00000516443.1:p.Ser572=
ENST00000706546.1:c.1716G>A	ENSP00000516444.1:p.Ser572=
ENST00000706547.1:c.1716G>A	ENSP00000516445.1:p.Ser572=
ENST00000461988.6:c.1716G>A MANE Select	ENSP00000419970.1:p.Ser572=
ENST00000394893.5:c.1716G>A	ENSP00000378355.1:p.Ser572=
ENST00000412064.6:c.*109-91G>A	ENSP00000404731.2:n.*109-91G>A
ENST00000439269.1:c.930G>A	ENSP00000412490.1:p.Ser310=
ENST00000447222.5:c.1867G>A
ENST00000454934.5:c.*1021G>A	ENSP00000414263.1:n.*1021G>A
ENST00000461988.5:c.1716G>A	ENSP00000419970.1:p.Ser572=
ENST00000493973.1:n.327G>A
NM_000941.2:c.1716G>A	NP_000932.3:p.Ser572=
NM_000941.3:c.1716G>A	NP_000932.3:p.Ser572=
NM_001367562.1:c.1716G>A	NP_001354491.1:p.Ser572=
NM_001382655.1:c.1770G>A	NP_001369584.1:p.Ser590=
NM_001382657.1:c.1716G>A	NP_001369586.1:p.Ser572=
NM_001382658.1:c.1716G>A	NP_001369587.1:p.Ser572=
NM_001382659.1:c.1716G>A	NP_001369588.1:p.Ser572=
NM_001382662.1:c.1566G>A	NP_001369591.1:p.Ser522=
NM_001367562.3:c.1707G>A	NP_001354491.2:p.Ser569=
NM_001382655.3:c.1761G>A	NP_001369584.2:p.Ser587=
NM_001382657.2:c.1707G>A	NP_001369586.2:p.Ser569=
NM_001382658.3:c.1707G>A	NP_001369587.2:p.Ser569=
NM_001382659.3:c.1707G>A	NP_001369588.2:p.Ser569=
NM_001382662.3:c.1557G>A	NP_001369591.2:p.Ser519=
NM_001395413.1:c.1707G>A MANE Select	NP_001382342.1:p.Ser569=